Varaico: Literature-Extracted Genetic Variants

MYH8

220 papers

RefSeq Summary

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonid...

Pfam Domains

Myosin_Naa 35–79UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 90–769UCSCMyosin head (motor domain)

Myosin_tail_1aa 846–1927UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 8

HGNC Alias Symbols

MyHC-peri; MyHC-pn

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002472.3

p.L390I

c.1168C>A

Surrounding Variants

1 paper

NM_002472.3

p.D397N

c.1189G>A

1 paper

NM_002472.3

p.K400N

c.1200A>T

6 papers

NM_002472.3

p.C403*

c.1209C>A

1 paper

NM_002472.3

p.P405L

c.1214C>T

1 paper

NM_002472.3

p.R406W

c.1216A>T

1 paper

NM_002472.3

p.Y413F

c.1238A>T

1 paper

NM_002472.3

p.V443V

c.1329C>A

2 papers

NM_002472.3

p.R445C

c.1333C>T

1 paper

NM_002472.3

p.Q448*

c.1342C>T

1 paper

NM_002472.3

p.T452I

c.1355C>T

1 paper

NM_002472.3

p.E382K

c.1144G>A

1 paper

NM_002472.3

p.R372H

c.1115G>A